Fragile X refers to a group of conditions that are related to defects in the FMR1 gene, which is on the X chromosome. This gene shuts down and is unable to make a protein that is important to normal brain growth and development. Fragile X Syndrome is the most common inherited form of intellectual disability, and is seen in 1:4000 boys and 1:6000 girls. There are two other conditions that result from defects in the FMR1 gene, both of which start in adulthood. These are Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).
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